ES3026544T3 - Size-based genomic analysis for prenatal diagnosis - Google Patents

Size-based genomic analysis for prenatal diagnosis Download PDF

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Publication number
ES3026544T3
ES3026544T3 ES23160186T ES23160186T ES3026544T3 ES 3026544 T3 ES3026544 T3 ES 3026544T3 ES 23160186 T ES23160186 T ES 23160186T ES 23160186 T ES23160186 T ES 23160186T ES 3026544 T3 ES3026544 T3 ES 3026544T3
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chromosome
size
nucleic acid
fragments
classification
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Spanish (es)
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Yuk Ming Dennis Lo
Kwan Chee Chan
Wenli Zheng
Wai Kwun Rossa Chiu
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Chinese University of Hong Kong CUHK
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/112—Disease subtyping, staging or classification
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/172—Haplotypes

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
ES23160186T 2009-11-06 2010-11-05 Size-based genomic analysis for prenatal diagnosis Active ES3026544T3 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US25907609P 2009-11-06 2009-11-06
US36039910P 2010-06-30 2010-06-30

Publications (1)

Publication Number Publication Date
ES3026544T3 true ES3026544T3 (en) 2025-06-11

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ES23160186T Active ES3026544T3 (en) 2009-11-06 2010-11-05 Size-based genomic analysis for prenatal diagnosis

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US (4) US8620593B2 (enExample)
EP (3) EP2496713B1 (enExample)
JP (2) JP5770737B2 (enExample)
CN (2) CN107312844B (enExample)
AU (1) AU2010317019B2 (enExample)
CA (1) CA2780016C (enExample)
EA (1) EA034241B1 (enExample)
ES (1) ES3026544T3 (enExample)
IL (1) IL219545A (enExample)
MX (2) MX357692B (enExample)
TW (1) TWI445854B (enExample)
WO (1) WO2011054936A1 (enExample)

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Publication number Publication date
EA201200701A1 (ru) 2012-12-28
AU2010317019A1 (en) 2012-05-31
CA2780016C (en) 2017-09-19
EP4212630B1 (en) 2025-05-07
WO2011054936A1 (en) 2011-05-12
TW201129736A (en) 2011-09-01
JP6001721B2 (ja) 2016-10-05
US8620593B2 (en) 2013-12-31
EP2496713B1 (en) 2018-07-18
US20180237858A1 (en) 2018-08-23
CA2780016A1 (en) 2011-05-12
JP2013509870A (ja) 2013-03-21
EP2496713A1 (en) 2012-09-12
TWI445854B (zh) 2014-07-21
AU2010317019B2 (en) 2014-10-30
EP4212630A1 (en) 2023-07-19
EP3406737A1 (en) 2018-11-28
BR112012010708A2 (pt) 2016-03-29
US9982300B2 (en) 2018-05-29
CN107312844B (zh) 2021-01-22
EP3406737B1 (en) 2023-05-31
CN102791881A (zh) 2012-11-21
IL219545A (en) 2015-02-26
MX357692B (es) 2018-07-19
CN102791881B (zh) 2017-08-08
CN107312844A (zh) 2017-11-03
JP2015165805A (ja) 2015-09-24
EP4212630C0 (en) 2025-05-07
JP5770737B2 (ja) 2015-08-26
MX2012005217A (es) 2012-07-23
US11365448B2 (en) 2022-06-21
US20220282332A1 (en) 2022-09-08
EA034241B1 (ru) 2020-01-21
US20140080720A1 (en) 2014-03-20
IL219545A0 (en) 2012-06-28
US20110276277A1 (en) 2011-11-10

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